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SLC6A2 solute carrier family 6 member 2 [ Homo sapiens (human) ]

Gene ID: 6530, updated on 8-May-2016
Official Symbol
SLC6A2provided by HGNC
Official Full Name
solute carrier family 6 member 2provided by HGNC
Primary source
HGNC:HGNC:11048
See related
Ensembl:ENSG00000103546 HPRD:01232; MIM:163970; Vega:OTTHUMG00000133208
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NET; NAT1; NET1; SLC6A5
Summary
This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Orthologs
Location:
16q12.2
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (55655604..55706192)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (55689542..55740104)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene matrix metallopeptidase 2 Neighboring gene lysophosphatidylcholine acyltransferase 2 Neighboring gene calpain small subunit 2 Neighboring gene uncharacterized LOC105376770 Neighboring gene uncharacterized LOC105371280 Neighboring gene carboxylesterase 1 pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT dopamine:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
monoamine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
norepinephrine:sodium symporter activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
NOT dopamine uptake involved in synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
 
monoamine transport IDA
Inferred from Direct Assay
more info
PubMed 
norepinephrine transport IBA
Inferred from Biological aspect of Ancestor
more info
 
response to pain IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
sodium-dependent noradrenaline transporter
Names
neurotransmitter transporter
norepinephrine transporter
solute carrier family 6 (neurotransmitter transporter), member 2
solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2
solute carrier family 6 member 5
NP_001034.1
NP_001165972.1
NP_001165973.1
NP_001165975.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016969.1 RefSeqGene

    Range
    6015..55563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001043.3NP_001034.1  sodium-dependent noradrenaline transporter isoform 2

    See identical proteins and their annotated locations for NP_001034.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 3' exon including the coding region, as compared to variant 1. The resulting isoform (2) is shorter and has a different C-terminus, as compared to isoform 1.
    Source sequence(s)
    AC136621, AK301811, AU132072, BC060831
    Consensus CDS
    CCDS10754.1
    UniProtKB/Swiss-Prot
    P23975
    UniProtKB/TrEMBL
    A0A024R6T9
    Related
    ENSP00000369237, OTTHUMP00000164270, ENST00000379906, OTTHUMT00000256922
    Conserved Domains (1) summary
    cd11512
    Location:56615
    SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain
  2. NM_001172501.1NP_001165972.1  sodium-dependent noradrenaline transporter isoform 2

    See identical proteins and their annotated locations for NP_001165972.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 3' exon including the coding region, as compared to variant 1. The resulting isoform (2) is shorter and has a different C-terminus, as compared to isoform 1.
    Source sequence(s)
    AC136621, AK312793, DA853047
    Consensus CDS
    CCDS10754.1
    UniProtKB/Swiss-Prot
    P23975
    UniProtKB/TrEMBL
    A0A024R6T9
    Related
    ENSP00000457473, OTTHUMP00000254847, ENST00000568943, OTTHUMT00000433271
    Conserved Domains (1) summary
    cd11512
    Location:56615
    SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain
  3. NM_001172502.1NP_001165973.1  sodium-dependent noradrenaline transporter isoform 3

    See identical proteins and their annotated locations for NP_001165973.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has alternate 5' and 3' sequences including the 5' and 3' coding regions, as compared to variant 1. The resulting isoform (3) is shorter and has different N- and C-termini, as compared to isoform 1.
    Source sequence(s)
    AC136621, AK301811, BC039309
    Consensus CDS
    CCDS58463.1
    UniProtKB/Swiss-Prot
    P23975
    Related
    ENSP00000457375, OTTHUMP00000254853, ENST00000567238, OTTHUMT00000433277
    Conserved Domains (1) summary
    cl00456
    Location:27510
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  4. NM_001172504.1NP_001165975.1  sodium-dependent noradrenaline transporter isoform 1

    See identical proteins and their annotated locations for NP_001165975.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC136621
    Consensus CDS
    CCDS54011.1
    UniProtKB/Swiss-Prot
    P23975
    Related
    ENSP00000219833, ENST00000219833
    Conserved Domains (1) summary
    cd11512
    Location:56612
    SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    55655604..55706192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523295.1XP_011521597.1  

    See identical proteins and their annotated locations for XP_011521597.1

    UniProtKB/Swiss-Prot
    P23975
    Conserved Domains (1) summary
    cd11512
    Location:56612
    SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain
  2. XM_011523296.1XP_011521598.1  

    Conserved Domains (1) summary
    cl00456
    Location:56567
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  3. XM_011523297.1XP_011521599.1  

    See identical proteins and their annotated locations for XP_011521599.1

    UniProtKB/TrEMBL
    H3BRE9
    Related
    ENSP00000456210, OTTHUMP00000254852, ENST00000566163, OTTHUMT00000433276
    Conserved Domains (1) summary
    cl00456
    Location:56570
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  4. XM_011523298.1XP_011521600.1  

    Conserved Domains (1) summary
    cl00456
    Location:56382
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  5. XM_006721263.2XP_006721326.1  

    See identical proteins and their annotated locations for XP_006721326.1

    UniProtKB/Swiss-Prot
    P23975
    Conserved Domains (1) summary
    cd11512
    Location:56612
    SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain
  6. XM_011523300.1XP_011521602.1  

    See identical proteins and their annotated locations for XP_011521602.1

    Conserved Domains (1) summary
    cl00456
    Location:1374
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  7. XM_011523299.1XP_011521601.1  

    See identical proteins and their annotated locations for XP_011521601.1

    Conserved Domains (1) summary
    cl00456
    Location:1374
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RNA

  1. XR_933403.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    57096804..57147472
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)